Table 1.
Demographics, CSF data, neuropathological classification, and clinical profiles of retrospective cohort.
| Neuropathological Classification | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Prion Disease Origin |
Sporadic | Genetic | ||||||||||
| Classification | Unit | MM1 | MV1 | MV2 | VV1 | VV2 | MM2-C | sFI | gCJD | GSS | FFI | Total |
| n (%) |
61 (48.4) |
10 (7.9) |
9 (7.1) |
8 (6.3) |
15 (11.9) |
7 (5.6) |
1 (0.8) |
12 (9.5) |
2 (1.6) |
1 (0.8) |
126 (100) |
|
| Age at death | yrs (SD) |
67.7 (9.8) |
70.4 (6.4) |
68.3 (5.0) |
61.9 (15.8) |
63.6 (9.7) |
64.9 (20.8) |
60.0 (0.0) |
57.5 (8.4) |
60.0 (11.3) |
61.0 (0.0) |
65.8 (10.9) |
| Duration | mo (SD) |
3.4 (2.7) |
9.4 (0.0) |
14.2 (9.6) |
6.9 (2.6) |
6.4 (3.6) |
12.5 (11.7) |
13.0 (0.0) |
3.5 (2.4) |
30.9 (0.1) |
9.4 (0.0) |
6.4 (6.9) |
| Male | n (%) |
28 (45.9) |
4 (40.0) |
6 (66.7) |
5 (62.5) |
8 (66.7) |
4 (50.0) |
1 (100.0) |
8 (66.7) |
1 (50.0) |
1 (100.0) |
66 (52.4) |
| 14-3-3 positive | n (%) |
58 (95.1) |
9 (90.0) |
1 (11.1) |
6 (75.0) |
15 (100.0) |
3 (42.9) |
0 (0.0) |
10 (83.3) |
1 (50.0) |
0 (0.0) |
103 (81.7) |
|
tTau positive (>1150 pg/ml) |
n (%) |
58 (95.1) |
9 (90.0) |
7 (77.8) |
8 (100.0) |
15 (100.0) |
4 (57.1) |
0 (0.0) |
11 (91.7) |
1 (50.0) |
1 (100.0) |
114 (90.5) |
| tTau | pg/ml (SD) |
5071 (3971) |
6827 (4588) |
2368 (1245) |
4177 (2276) |
3886 (825) |
2035 (1445) |
125 (0.0) |
6256 (5429) |
2974 (3780) |
4536 (0.0) |
4687 (3758) |
|
RT-QuIC positive |
n (%) |
58 (95.1) |
10 (100.0) |
8 (88.9) |
6 (75.0) |
15 (100.0) |
5 (71.4) |
0 (0.0) |
12 (100.0) |
1 (50.0) |
1 (100.0) |
116 (92.1) |
|
PSWCs on EEG (% with EEG results) |
n (%) |
14 (37.8) |
1 (12.5) |
0 (0.0) |
0 (0.0) |
0 (0.0) |
1 (50.0) |
- | 4 (66.7) |
- | 0 (0.0) |
20 (29.4) |
|
Positive MRI (% with MRI results) |
n (%) |
36 (76.6) |
7 (77.8) |
4 (66.7) |
7 (87.5) |
8 (80.0) |
5 (71.4) |
1 (100.0) |
10 (83.3) |
0 (0.0) |
0 (0.0) |
78 (76.5) |
|
Dementia (% with clinical history) |
n (%) |
52 (96.3) |
8 (88.9) |
6 (100.0) |
8 (100.0) |
11 (100.0) |
8 (100.0) |
1 (100.0) |
11 (91.7) |
2 (100.0) |
1 (100.0) |
108 (96.4) |
|
Visual (% with clinical history) |
n (%) |
16 (30.2) |
3 (33.3) |
2 (33.3) |
2 (25.0) |
3 (27.3) |
3 (37.5) |
0 (0.0) |
2 (16.7) |
0 (0.0) |
0 (0.0) |
31 (27.9) |
|
Ataxia (% with clinical history) |
n (%) |
34 (64.2) |
4 (44.4) |
4 (66.7) |
5 (62.5) |
10 (90.9) |
5 (62.5) |
0 (0.0) |
11 (91.7) |
2 (100.0) |
1 (100.0) |
76 (68.5) |
|
Myoclonus (% with clinical history) |
n (%) |
24 (45.3) |
3 (33.3) |
0 (0.0) |
6 (75.0) |
2 (18.2) |
2 (25.0) |
0 (0.0) |
6 (50.0) |
1 (50.0) |
1 (100.0) |
45 (40.5) |
|
Pyramidal Symptoms (% with clinical history) |
n (%) |
11 (20.8) |
2 (22.2) |
3 (50.0) |
5 (62.5) |
3 (27.3) |
2 (25.0) |
0 (0.0) |
5 (41.7) |
1 (50.0) |
0 (0.0) |
32 (28.8) |
|
Extrapyramidal Symptoms (% with clinical history) |
n (%) |
11 (20.8) |
6 (66.7) |
3 (50.0) |
4 (50.0) |
1 (9.1) |
1 (12.5) |
0 (0.0) |
3 (25.0) |
1 (50.0) |
0 (0.0) |
30 (27.0) |